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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTM1
(S7fs)
Deletion
(frameshift variant)
not provided
GPathogenic
MTM1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
MTM1
(R24*)
Single nucleotide variant
(nonsense)
Severe X-linked myotubular myopathy
+1 more
GPathogenic
MTM1
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTM1
(E48fs)
Deletion
(frameshift variant)
not provided
GPathogenic
MTM1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
MTM1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
MTM1
(P199fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
MTM1
(W193R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MTM1
(R241C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
MTM1
(L347* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
MTM1
(K351R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MTM1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MTM1
(K363fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
MTM1
Single nucleotide variant
not provided
+1 more
GUncertain significance
MTM1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
MTM1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
MTM1
(R421* +1 more)
Single nucleotide variant
(nonsense)
Severe X-linked myotubular myopathy
+2 more
GPathogenic
MTM1
(D431N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MTM1
(D433N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MTM1
(F438fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
MTM1
(P453fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
MTM1
(E420K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MTM1
(S472fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
MTM1
Indel
(inframe_indel)
not specified
+1 more
GConflicting classifications of pathogenicity
MTM1
Microsatellite
(splice donor variant)
not provided
GPathogenic
MTM1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
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